Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Tinag'

689612

Institutional Source

Beutler Lab

Gene Symbol

Tinag

Ensembl Gene

ENSMUSG00000032357

Gene Name

tubulointerstitial nephritis antigen

Synonyms

TIN-ag

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76951693-77045794 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 76997018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034911] [ENSMUST00000184897]

AlphaFold

Q9WUR0

Predicted Effect

probably null
Transcript: ENSMUST00000034911

SMART Domains

Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SO	58	105	1.68e-11	SMART
Pept_C1	216	466	1.83e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184897

SMART Domains

Protein: ENSMUSP00000139155
Gene: ENSMUSG00000032357

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SO	58	105	1.68e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,392	Y190*	probably null	Het
Agbl3	T	C	6: 34,799,452	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,523,389	K1040N	probably damaging	Het
Ano3	T	A	2: 110,745,898	T93S	probably benign	Het
Apoc3	T	A	9: 46,233,234	I97F	probably benign	Het
Arid5a	A	G	1: 36,319,545	E401G	probably benign	Het
Atxn3	T	C	12: 101,937,471		probably null	Het
Brca1	C	T	11: 101,502,480		probably null	Het
C1ql3	T	A	2: 13,010,387	N154I	probably damaging	Het
Ccdc110	A	T	8: 45,942,838	M589L	probably benign	Het
Ccnb2	A	T	9: 70,410,813	F226I	possibly damaging	Het
Commd8	TTGTCATCT	TT	5: 72,160,984		probably null	Het
Dis3	T	C	14: 99,095,211	T262A	probably benign	Het
Eif4a2	G	A	16: 23,110,653	R234Q	probably benign	Het
Ephx2	G	A	14: 66,086,239	R481*	probably null	Het
Fbxo15	T	C	18: 84,965,520	I331T	possibly damaging	Het
Gfra2	A	G	14: 70,901,495	E121G	possibly damaging	Het
Git1	G	A	11: 77,499,075	A55T	probably benign	Het
Hfm1	T	C	5: 106,898,280	I553V	probably benign	Het
Hydin	G	A	8: 110,267,451		probably null	Het
Iqgap3	A	G	3: 88,109,466	N1085S		Het
Kbtbd12	T	C	6: 88,618,440	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,630,994	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 111,071,838	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,811,786	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,699,710	D14G	probably benign	Het
Ly6l	G	A	15: 75,449,736	V62I	possibly damaging	Het
March8	T	C	6: 116,401,923	F273L	probably benign	Het
Masp1	A	C	16: 23,469,921	S710A	probably benign	Het
Mcm10	G	A	2: 5,008,603	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,126,306	R682H	probably damaging	Het
Mink1	C	T	11: 70,608,381	T684I	possibly damaging	Het
Mocos	A	T	18: 24,664,032	Q83L	probably damaging	Het
Nags	T	C	11: 102,147,521	L351P	probably damaging	Het
Nalcn	G	A	14: 123,295,451	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,725,943	D824G	probably benign	Het
Nwd1	A	T	8: 72,695,418	M1031L	probably benign	Het
Olfr1164	T	A	2: 88,093,828	Q36L	probably benign	Het
Olfr1188	A	C	2: 88,560,314	I271L	probably benign	Het
Olfr1286	A	T	2: 111,420,360	I197N	possibly damaging	Het
Olfr1466	A	G	19: 13,341,874	T39A	possibly damaging	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Olfr743	C	T	14: 50,533,754	T114I	probably benign	Het
Pan2	T	C	10: 128,315,181	M807T	probably damaging	Het
Parp8	A	T	13: 116,911,415	I222N	probably damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,531,947	L186P		Het
Ppargc1b	G	A	18: 61,310,659	R494W	probably damaging	Het
Prg4	G	T	1: 150,455,537	P462T	unknown	Het
Ptcd1	T	A	5: 145,154,715	I525L	probably benign	Het
Ptchd4	A	T	17: 42,502,759	Y517F	probably damaging	Het
Pum1	T	C	4: 130,752,861	F693S	probably damaging	Het
Ribc2	A	C	15: 85,137,962	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,496,884		probably null	Het
Sgf29	G	A	7: 126,672,654	V284M	probably damaging	Het
Skap2	C	T	6: 51,879,770		probably null	Het
Smap1	T	A	1: 23,922,073	E28V	probably damaging	Het
Smc3	A	G	19: 53,628,769	N538D	probably benign	Het
Spen	T	C	4: 141,476,391	T1642A	unknown	Het
Spred3	G	A	7: 29,166,530	R115*	probably null	Het
Sugt1	T	A	14: 79,628,853	M304K	possibly damaging	Het
Sval1	T	C	6: 41,951,672	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500	I1574T	probably benign	Het
Trak1	T	C	9: 121,460,488	L622P	probably damaging	Het
Ttn	C	T	2: 76,755,874	D21838N	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,756,276	A7V	probably benign	Het
Yy1	G	T	12: 108,793,995	G195C	probably benign	Het
Zbtb17	T	A	4: 141,466,365	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,712,234	V668A	probably benign	Het
Zfp819	C	A	7: 43,617,146	T351K	probably damaging	Het
Zfp820	C	A	17: 21,820,050	S99I	possibly damaging	Het

Other mutations in Tinag

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01450:Tinag	APN	9	77045576	missense	possibly damaging	0.93
IGL01524:Tinag	APN	9	77045538	missense	probably damaging	1.00
IGL01537:Tinag	APN	9	77045603	missense	probably benign	0.01
IGL01832:Tinag	APN	9	77031756	missense	probably benign	0.18
IGL02512:Tinag	APN	9	77031787	splice site	probably benign
IGL02888:Tinag	APN	9	77031713	missense	probably benign	0.24
G1citation:Tinag	UTSW	9	77031702	missense	probably benign	0.00
R0179:Tinag	UTSW	9	76996882	splice site	probably benign
R0200:Tinag	UTSW	9	76951935	missense	probably damaging	1.00
R0206:Tinag	UTSW	9	76999852	missense	probably damaging	1.00
R0545:Tinag	UTSW	9	77031710	missense	possibly damaging	0.61
R0666:Tinag	UTSW	9	77005687	missense	probably benign	0.02
R0685:Tinag	UTSW	9	76952003	missense	probably damaging	1.00
R0732:Tinag	UTSW	9	77001654	missense	possibly damaging	0.93
R1445:Tinag	UTSW	9	77045516	missense	probably damaging	1.00
R2318:Tinag	UTSW	9	77045411	missense	probably damaging	1.00
R3809:Tinag	UTSW	9	76951905	missense	probably benign	0.15
R4747:Tinag	UTSW	9	76996956	missense	probably benign
R4781:Tinag	UTSW	9	76996950	missense	possibly damaging	0.69
R5110:Tinag	UTSW	9	76952007	missense	probably damaging	1.00
R5328:Tinag	UTSW	9	77005631	nonsense	probably null
R5605:Tinag	UTSW	9	77045412	missense	probably damaging	1.00
R5897:Tinag	UTSW	9	77045444	missense	probably damaging	1.00
R6296:Tinag	UTSW	9	76996935	missense	possibly damaging	0.67
R6822:Tinag	UTSW	9	77031702	missense	probably benign	0.00
R6915:Tinag	UTSW	9	77001615	missense	probably damaging	1.00
R7285:Tinag	UTSW	9	77045661	missense	probably benign
R7334:Tinag	UTSW	9	77001649	missense	probably damaging	1.00
R7974:Tinag	UTSW	9	76999849	missense	probably benign	0.01
R8354:Tinag	UTSW	9	77031695	missense	probably damaging	1.00
R8454:Tinag	UTSW	9	77031695	missense	probably damaging	1.00
R9029:Tinag	UTSW	9	77027014	splice site	probably benign
R9073:Tinag	UTSW	9	76997018	critical splice acceptor site	probably null
R9508:Tinag	UTSW	9	77005699	missense	probably damaging	1.00
Z1177:Tinag	UTSW	9	77045498	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTATCTGAGGCAACCAAAGACATCAG -3'
(R):5'- TCTTCAGAGCGGAAAGGATG -3'

Sequencing Primer
(F):5'- GAGGCAACCAAAGACATCAGATACAG -3'
(R):5'- AGGTGTGATTTCTCTCTTCTTAG -3'

Posted On

2021-11-19